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Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Ciolfi, Andrea; Foroutan, Aidin; Capuano, Alessandro; Pedace, Lucia; Travaglini, Lorena; Pizzi, Simone; Andreani, Marco; Miele, Evelina; Invernizzi, Federica; Reale, Chiara; Panteghini, Celeste; Iascone, Maria; Niceta, Marcello; Gavrilova, Ralitza H; Schultz-Rogers, Laura; Agolini, Emanuele; Bedeschi, Maria Francesca; Prontera, Paolo; Garibaldi, Matteo; Galosi, Serena; Leuzzi, Vincenzo; Soliveri, Paola; Olson, Rory J; Zorzi, Giovanna S; Garavaglia, Barbara M; Tartaglia, Marco; Sadikovic, Bekim.
Affiliation
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.
  • Capuano A; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Pedace L; Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Travaglini L; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Andreani M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Miele E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Invernizzi F; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Reale C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Panteghini C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Iascone M; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Niceta M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Gavrilova RH; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Schultz-Rogers L; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Agolini E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Bedeschi MF; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Prontera P; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Garibaldi M; Maternal-Infantile Department, University Hospital of Perugia, Perugia, Italy.
  • Galosi S; Department of Neuroscience, NESMOS, Sapienza University, Sant'Andrea Hospital, Rome, Italy.
  • Leuzzi V; Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
  • Soliveri P; Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
  • Olson RJ; Department of Neurology, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Zorzi GS; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Garavaglia BM; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Tartaglia M; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  • Sadikovic B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net.
Clin Epigenetics ; 13(1): 157, 2021 08 11.
Article in En | MEDLINE | ID: mdl-34380541
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone-Lysine N-Methyltransferase / DNA Methylation / Dystonic Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Journal: Clin Epigenetics Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Germany
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone-Lysine N-Methyltransferase / DNA Methylation / Dystonic Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Journal: Clin Epigenetics Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Germany